Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19666020C>T , CM000663.2:g.19666020C>T | GRCh38 |
| NC_000001.10:g.19992513C>T , CM000663.1:g.19992513C>T | GRCh37 |
| NC_000001.9:g.19865100C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000871.3:c.267C>T MANE Select | NP_000862.1:p.Tyr89= |
| ENST00000289753.2:c.267C>T MANE Select | ENSP00000289753.1:p.Tyr89= |
| NM_000871.2:c.267C>T | NP_000862.1:p.Tyr89= |
| ENST00000289753.1:c.267C>T | ENSP00000289753.1:p.Tyr89= |